A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513346



Internal ID15506082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:2214580..2214776hg38UCSC Ensembl
Outerchr12:2323746..2323942hg19UCSC Ensembl
Outerchr12:2194007..2194203hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg381342
hg191342
hg181342
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625738
Samples1
Known GenesCACNA1C
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv513346
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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